Canonical Allele Identifier: CA10642996
Gene: CDK4 HGNC NCBI
TSPAN31 HGNC NCBI

Linked Data

ClinVar Variation Id: 309970
ClinVar RCV Id: RCV000296878
dbSNP Id: rs886049710

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57748046A>G , CM000674.2:g.57748046A>G GRCh38
NC_000012.11:g.58141829A>G , CM000674.1:g.58141829A>G GRCh37
NC_000012.10:g.56428096A>G NCBI36
NG_007484.2:g.9336T>C , LRG_490:g.9336T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257904.11:c.*479T>C (CDK4) MANE Select ENSP00000257904.5:n.*479T>C
ENST00000257910.8:c.*756A>G (TSPAN31) MANE Select ENSP00000257910.3:n.*756A>G
ENST00000257904.10:c.*479T>C (CDK4) ENSP00000257904.5:n.*479T>C
ENST00000257910.7:c.*756A>G (TSPAN31) ENSP00000257910.3:n.*756A>G
ENST00000312990.10:c.*703T>C (CDK4) ENSP00000316889.6:n.*703T>C
ENST00000546993.5:n.1867A>G (TSPAN31)
ENST00000547992.5:c.*756A>G (TSPAN31) ENSP00000448209.1:n.*756A>G
ENST00000550791.1:n.1946A>G (TSPAN31)
NM_000075.3:c.*479T>C (CDK4) NP_000066.1:n.*479T>C
NM_005981.3:c.*756A>G (TSPAN31) NP_005972.1:n.*756A>G
XM_005269074.2:c.*756A>G (TSPAN31) XP_005269131.2:n.*756A>G
NM_001330168.1:c.*756A>G (TSPAN31) NP_001317097.1:n.*756A>G
NM_001330169.1:c.*756A>G (TSPAN31) NP_001317098.1:n.*756A>G
NM_005981.4:c.*756A>G (TSPAN31) NP_005972.1:n.*756A>G
XM_024449123.1:c.*756A>G (TSPAN31) XP_024304891.1:n.*756A>G
NM_000075.4:c.*479T>C (CDK4) MANE Select NP_000066.1:n.*479T>C
NM_005981.5:c.*756A>G (TSPAN31) MANE Select NP_005972.1:n.*756A>G
NM_001330168.2:c.*756A>G (TSPAN31) NP_001317097.1:n.*756A>G
NM_001330169.2:c.*756A>G (TSPAN31) NP_001317098.1:n.*756A>G